PIK3CA-Related Overgrowth Spectrum

Preferred Label : PIK3CA-Related Overgrowth Spectrum;

NCIt synonyms : PROS;

NCIt definition : A group of rare disorders that are usually caused by somatic mutations in the PIK3CA gene, but may rarely be caused by de novo germline mutations. These disorders are typically characterized by sporadic overgrowth of parts of the body, intellectual disability, low muscle tone, and vascular malformations with congenital or early childhood onset. Representative examples include: fibroadipose hyperplasia, CLOVES syndrome, megalencephaly-capillary malformation syndrome, hemihyperplasia-multiple lipomatosis syndrome, hemimegalencephaly, and facial infiltrating lipomatosis.;

NCI Metathesaurus CUI : CL556561;

Details

Origin ID

C178285;

UMLS CUI

C4728213;

Automatic exact mappings (from CISMeF team)
- pros [IUPAC Term]
Currated CISMeF NLP mapping
- PIK3CA related overgrowth spectrum [MedDRA Preferred Term]
- PIK3CA-related overgrowth syndrome [ORDO Disease]
- Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- PIK3CA related overgrowth spectrum [MedDRA Preferred Term]
- Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PIK3CA Gene [NCIt concept]
related_to_genetic_biomarker
- PIK3CA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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